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Gene Result Question


ADevoto

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ADevoto Explorer

I finally got our son's stool and gene test back from Enterolab. Here are the results. I have a question about the gene results - Does this mean he has multiply genes or just subtypes . It is very confusing.

Gluten sensitivity stool test - 13 units (shows sensitivity)

All other tests for normal

Gene test:

Molecular analysis - HLA-DQB1 *0201, 0602

Serologic analysuis: HLA-DQ 2, 1 (subtype 2,6)

It looks like he needs to be on the diet. Any comments? Thanks


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3boyzmom Newbie

Within each set of genes there are many subtypes. The number *0201 is the exact gene your son has. Then withthin the grouping of *02xx genes there are subtypes. Same with any of the genes, so the *0602 is the DQ1, subtype 6.

The genes pan out as follows:

DQB1 *0201 = DQ2, subtype 2

DQB1 *0602 = DQ1, subtype 6 (OR it can also be referred to as DQ6)

He has 2 genes, one from you and one from your husband. BOTH of these genes predispose someone to a gluten sensitivity. DQ2 is associated with celiac disease and gastro problems, while DQ1 is associated with gluten induced neurological problems. I would definitely take a look at you and your husband and any other children.

There are some pretty good explanations on these genes and their typing on the Braintalk forum. Here is one post that gives some links to help understand your gene naming:

Open Original Shared Link

ADevoto Explorer

Thank you , thank you, thank you. I thought no one was ever going to reply!! That was very helpful. and actually cleared up somethings. It was very interesting that you said that that the DQ1 (I think) was tied to nuerological problems because he has many of these that we haven't been able to figure out why. Thank you so much!

burdee Enthusiast

Hi ADevoto: Enterolab usually adds an interpretation of test results with their lab test results email. What did they say about the genetic results? If you have questions, write to Dr. Fine at E-lab. He WILL answer your email promptly. ;)

BURDEE

ADevoto Explorer

They just said that the HLA - DQ2 is the main gene that predisposes to gluten sensitivity and celiac. Can also prodisse to microscopic colitis and other autoimmune syndromes. Nothing about DQ1. But Dr. Fine did return an email to me that just said the above and that DQ1 usually doesn't lead to celiac but to sensitivity only.

I just wanted to understand more. I know that there is high % of people that are celiac that have the DQ2 gene but I really need to find the statistic that show what % of people that have the gene actually become celiac. Need more "proof" for my husband.

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    • trents
      I assume that you already know that genetic testing for celiac disease cannot be used to confirm a celiac diagnosis. About 40% of the general population has the genetic potential to develop celiac disease but only about 1% actually develop celiac disease. It can be used to rule out celiac disease with a high degree of confidence, however, in the case where the genetic testing is negative for the genes. Until and unless you are actually diagnosed with celiac disease I would not raise this as an issue with family. However, if you are diagnosed with celiac disease through blood antibody testing and/or endoscopy with positive biopsy I would suggest you encourage first degree relatives to also purse testing because there is a significant chance (somewhere betwee 10% and almost 50%, depending on which studies you reference) that they will also have or will develop active celiac disease. Often, there are symptoms are absent or very minor until damage to the small bowel lining or other body systems becomes significant so be prepared that they may blow you off. We call this "silent celiac disease". 
    • trents
      If you were off gluten for two months that would have been long enough to invalidate the celiac blood antibody testing. Many people make the same mistake. They experiment with the gluten free diet before seeking formal testing. Once you remove gluten from the diet the antibodies stop being produced and those that are already in circulation begin to be removed and often drop below detectable levels. To pursue valid testing for celiac disease you would need to resume gluten consumption equivalent to the amount found in 4-6 slices of wheat bread daily for at least two weeks, preferably longer. These are the most recent guidelines for the "gluten challenge". Without formal testing there is no way to distinguish between celiac disease and gluten sensitivity since their symptoms overlap. However, celiac disease is an autoimmune disorder that damages the small bowel lining, not true of gluten sensitivity. There is no test available for gluten sensitivity so celiac disease must first be ruled out. By the way, elevated liver enzymes was what led to my celiac diagnosis almost 25 years ago.
    • trents
      Then it does not seem to me that a gluten-related disorder is at the heart of your problems, unless that is, you have refractory celiac disease. But you did not answer my question about how long you had been eating gluten free before you had the blood antibody test for celiac disease done.
    • Xravith
      My genetic test results have arrived - I’m homozygous for DQB1*02, meaning I have HLA-DQ2. I’ve read that this is one of the genes most strongly associated with celiac disease, and my symptoms are very clear. I’m relieved that the results finally arrived, as I was getting quite worried since my symptoms have been getting worse. Next step, blood test. What do these results imply? What should I tell my family? I’m concerned that this genetic predisposition might also affect other family members.
    • Roses8721
      Two months. In extreme situations like this where it’s clearly a smoking gun? I’m in LA so went to a very big hospital for pcp and gi and nutritionist 
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